Lance Rodan | Medical Services
Programs & Services
Languages
- English
Lance Rodan | Education
Medical School
University of Toronto
2008, Toronto, Ontario, Canada
Residency
University of Toronto
2013, Toronto, Ontario, Canada
Fellowship
Harvard Medical School
2016, Boston, MA
Lance Rodan | Certifications
- American Board of Medical Genetics and Genomics (Clinical Genetics)
- American Board of Medical Genetics and Genomics (Medical Biochemical Genetics)
Lance Rodan | Publications
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study. Am J Med Genet A. 2024 Dec 04; e63956. View Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study. Abstract
Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities. medRxiv. 2024 Oct 30. View Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities. Abstract
Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. Am J Med Genet A. 2024 Sep 26; e63890. View Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. Abstract
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2024 Sep 19; 101273. View Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Abstract
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 Aug; 632(8026):832-840. View De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Abstract
Diagnostic Yield of CSF Testing in Infants for Disorders of Biogenic Amine Neurotransmitter Metabolism. Neurology. 2024 May; 102(9):e209300. View Diagnostic Yield of CSF Testing in Infants for Disorders of Biogenic Amine Neurotransmitter Metabolism. Abstract
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv. 2024 Apr 09. View De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. Abstract
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. medRxiv. 2024 Feb 13. View Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders. Abstract
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics. 2023 08 09; 224(4). View A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Abstract
De novo missense variants in phosphatidylinositol kinase PIP5KI? underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. Am J Hum Genet. 2023 08 03; 110(8):1377-1393. View De novo missense variants in phosphatidylinositol kinase PIP5KI? underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. Abstract
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nat Commun. 2023 07 11; 14(1):4109. View Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Abstract
A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. medRxiv. 2023 Feb 03. View A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Abstract
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet. 2023 02 02; 110(2):215-227. View Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Abstract
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Genet Med. 2023 01; 25(1):135-142. View Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. Abstract
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 Nov 03; 109(11):2092. View The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Abstract
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. Hum Mol Genet. 2022 09 29; 31(19):3325-3340. View SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. Abstract
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 10 06; 109(10):1923-1931. View The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Abstract
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. Am J Hum Genet. 2022 10 06; 109(10):1909-1922. View Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. Abstract
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022 08 27; 145(8):2687-2703. View Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Abstract
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. JIMD Rep. 2022 Sep; 63(5):391-399. View Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. Abstract
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genet Med. 2022 11; 24(11):2240-2248. View The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Abstract
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Am J Med Genet A. 2022 09; 188(9):2750-2759. View Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Abstract
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Am J Hum Genet. 2022 04 07; 109(4):601-617. View Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Abstract
Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis. Ann Clin Transl Neurol. 2022 04; 9(4):570-576. View Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis. Abstract
Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Abstract
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Am J Hum Genet. 2021 10 07; 108(10):2006-2016. View Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Abstract
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct; 23(10):2016. View Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Abstract
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. J Med Genet. 2022 07; 59(7):697-705. View O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Abstract
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Ann Neurol. 2021 08; 90(2):274-284. View Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Abstract
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clin Genet. 2021 10; 100(4):468-477. View CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Abstract
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 10; 23(10):1922-1932. View Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Abstract
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Am J Med Genet A. 2021 08; 185(8):2384-2390. View De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Abstract
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. Hum Mol Genet. 2021 04 26; 30(3-4):135-148. View Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. Abstract
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 06; 23(6):1028-1040. View Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Abstract
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet. 2021 Mar; 53(3):412. View Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Abstract
Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus. Am J Med Genet A. 2021 05; 185(5):1614-1618. View Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus. Abstract
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 05; 26(5):1706-1718. View RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Abstract
Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. Eur J Hum Genet. 2021 06; 29(6):998-1007. View Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. Abstract
Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. Ann Clin Transl Neurol. 2021 03; 8(3):716-722. View Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings. Abstract
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia. 2021 01; 62(1):e13-e21. View FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Abstract
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112. View BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Abstract
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 12 03; 107(6):1170-1177. View Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Abstract
Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy. Am J Med Genet A. 2021 02; 185(2):555-560. View Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy. Abstract
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. Clin Genet. 2020 12; 98(6):571-576. View Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder. Abstract
Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View Polymicrogyria is Associated With Pathogenic Variants in PTEN. Abstract
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet. 2020 10; 52(10):1046-1056. View Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Abstract
L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome. PLoS One. 2020; 15(9):e0238224. View L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome. Abstract
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. J Hum Genet. 2020 Nov; 65(11):1003-1017. View The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. Abstract
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):147-154. View Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. Abstract
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 04 02; 106(4):484-495. View Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Abstract
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. Genet Med. 2020 06; 22(6):1061-1068. View Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. Abstract
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun. 2020 01 30; 11(1):595. View Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Abstract
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med. 2020 03; 22(3):538-546. View De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Abstract
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Am J Med Genet A. 2020 01; 182(1):189-194. View Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Abstract
VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation. Mov Disord Clin Pract. 2019 Jul; 6(6):494-497. View VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation. Abstract
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 06 06; 104(6):1210-1222. View Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Abstract
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2019 May 02; 10(1):2079. View Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Abstract
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. Brain. 2019 05 01; 142(5):e15. View Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. Abstract
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Ann Neurol. 2019 06; 85(6):921-926. View Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Abstract
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Genet Med. 2019 09; 21(9):2043-2058. View Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. Abstract
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2019 Mar 07; 104(3):562. View De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Abstract
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2019 02 15; 10(1):883. View Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Abstract
Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. Am J Med Genet A. 2018 12; 176(12):2554-2560. View Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. Abstract
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 11 05; 9(1):4619. View CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Abstract
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Am J Hum Genet. 2018 11 01; 103(5):666-678. View De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Abstract
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 09; 125(1-2):118-126. View 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Abstract
Acute Illness Protocol for Urea Cycle Disorders. Pediatr Emerg Care. 2018 Jun; 34(6):e115-e119. View Acute Illness Protocol for Urea Cycle Disorders. Abstract
Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies. Clin Chem. 2018 05; 64(5):870-872. View Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies. Abstract
Recessive mutations in VPS13D cause childhood onset movement disorders. Ann Neurol. 2018 06; 83(6):1089-1095. View Recessive mutations in VPS13D cause childhood onset movement disorders. Abstract
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Mol Genet Metab. 2018 06; 124(2):161-167. View Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Abstract
Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome. Eur J Paediatr Neurol. 2018 May; 22(3):544-547. View Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome. Abstract
Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 2018 02; 59(2):389-402. View Defining the phenotypic spectrum of SLC6A1 mutations. Abstract
Acute Illness Protocol for Maple Syrup Urine Disease. Pediatr Emerg Care. 2018 Jan; 34(1):64-67. View Acute Illness Protocol for Maple Syrup Urine Disease. Abstract
Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. View Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Abstract
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155. View The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Abstract
Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation. Clin Chem. 2017 11; 63(11):1771-1773. View Ethylmalonic Aciduria in an Infant with Neurological and Skin Presentation. Abstract
Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. JIMD Rep. 2018; 40:17-22. View Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. Abstract
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. Abstract
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Pediatr Neurol. 2017 Nov; 76:47-53. View Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Abstract
Raised Anion Gap Metabolic Acidosis in a 4-Day-Old Child. Clin Chem. 2017 06; 63(6):1171-1173. View Raised Anion Gap Metabolic Acidosis in a 4-Day-Old Child. Abstract
Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Pediatr Emerg Care. 2017 Apr; 33(4):296-301. View Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders. Abstract
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Pediatr Emerg Care. 2017 Feb; 33(2):142-146. View Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. Abstract
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1833. View A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Abstract
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131. View De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. Abstract
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1826-1827. View A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Abstract
A 10-Month-Old With Intermittent Hypotonia and Paralysis. Pediatrics. 2016 07; 138(1). View A 10-Month-Old With Intermittent Hypotonia and Paralysis. Abstract
Now You See It, Now You Don't: Unidentified Plasma Amino Acid Peak. Clin Chem. 2016 05; 62(5):781-2. View Now You See It, Now You Don't: Unidentified Plasma Amino Acid Peak. Abstract
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. JIMD Rep. 2017; 31:73-77. View N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. Abstract
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. J Child Neurol. 2016 07; 31(8):1027-35. View Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. Abstract
Expansion of phenotype and genotypic data in CRB2-related syndrome. Eur J Hum Genet. 2016 10; 24(10):1436-44. View Expansion of phenotype and genotypic data in CRB2-related syndrome. Abstract
Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome. Neurol Genet. 2016 Feb; 2(1):e43. View Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome. Abstract
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1):a000562. View De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Abstract
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. View Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Abstract
Clinical Use of CSF Neurotransmitters. Pediatr Neurol. 2015 Oct; 53(4):277-86. View Clinical Use of CSF Neurotransmitters. Abstract
L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. PLoS One. 2015; 10(5):e0127066. View L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. Abstract
Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS. Mitochondrion. 2015 May; 22:66-74. View Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS. Abstract
Clinical reasoning: a case of abnormal eye movements in an infant: more than meets the eye. Neurology. 2013 Oct 08; 81(15):e112-5. View Clinical reasoning: a case of abnormal eye movements in an infant: more than meets the eye. Abstract
Anti-glutamic Acid decarboxylase antibody associated limbic encephalitis in a child: expanding the spectrum of pediatric inflammatory brain diseases. J Child Neurol. 2014 May; 29(5):677-83. View Anti-glutamic Acid decarboxylase antibody associated limbic encephalitis in a child: expanding the spectrum of pediatric inflammatory brain diseases. Abstract
MR spectroscopy in pediatric Wernicke encephalopathy. Neurology. 2013 Mar 05; 80(10):969. View MR spectroscopy in pediatric Wernicke encephalopathy. Abstract
Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency. JIMD Rep. 2013; 11:7-11. View Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency. Abstract
Reversible splenial lesion syndrome in pediatric systemic lupus erythematosus. J Rheumatol. 2012 Aug; 39(8):1698-9. View Reversible splenial lesion syndrome in pediatric systemic lupus erythematosus. Abstract
Clinical reasoning: encephalopathy in a 10-year-old boy. Neurology. 2012 Jul 17; 79(3):e12-8. View Clinical reasoning: encephalopathy in a 10-year-old boy. Abstract
Stroke recurrence in children with congenital heart disease. Ann Neurol. 2012 Jul; 72(1):103-11. View Stroke recurrence in children with congenital heart disease. Abstract
A citywide prehospital protocol increases access to stroke thrombolysis in Toronto. Stroke. 2009 Dec; 40(12):3841-4. View A citywide prehospital protocol increases access to stroke thrombolysis in Toronto. Abstract
Seizures during stroke thrombolysis heralding dramatic neurologic recovery. Neurology. 2006 Dec 12; 67(11):2048-9. View Seizures during stroke thrombolysis heralding dramatic neurologic recovery. Abstract